Onderzoeker
Beata Nowakowska
- Disciplines:Genetica, Systeembiologie, Moleculaire en celbiologie
Affiliaties
- Laboratorium voor Cytogenetica en Genoomonderzoek (Afdeling)
Lid
Vanaf15 jan 2010 → 30 jun 2017
Publicaties
1 - 10 van 14
- A catalog of hemizygous variation in 127 22q11 deletion patients(2016)
Auteurs: Matthew Hestand, Beata Nowakowska, Elfi Vergaelen, Jeroen Van Houdt, Ann Swillen, Koenraad Devriendt, Joris Vermeesch
Pagina's: 15065 - Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B(2015)
Auteurs: Marta Myśliwiec, Barbara Panasiuk, Maria Dębiec-Rychter, Piotr Sebastian Iwanowski, Urszula Łebkowska, Beata Nowakowska, Anna Marcinkowska, Pawel Stankiewicz, Alina T Midro
Pagina's: 445 - 9 - Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B(2015)
Auteurs: Marta Myśliwiec, Barbara Panasiuk, Maria Dębiec-Rychter, Piotr Sebastian Iwanowski, Urszula Łebkowska, Beata Nowakowska, Anna Marcinkowska, Pawel Stankiewicz, Alina T Midro
Pagina's: 445 - 9 - Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B(2015)
Auteurs: Beata Nowakowska
Pagina's: 445 - 9 - Non-allelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations(2013)
Auteurs: Caroline Robberecht, Thierry Voet, Masoud Zamani Esteki, Beata Nowakowska, Joris Vermeesch
Pagina's: 411 - 418 - Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS(2013)
Auteurs: Beata Nowakowska, Joris Vermeesch
Pagina's: 80 - 90 - Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach(2012)
Auteurs: Beata Nowakowska, Joris Vermeesch, Paolo De Coppi
Pagina's: 1953 - 1967 - Annotate-it : a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease(2012)
Auteurs: Alejandro Sifrim, Jeroen Van Houdt, Léon-Charles Tranchevent, Beata Nowakowska, Ryo Sakai, Koenraad Devriendt, Joris Vermeesch, Yves Moreau, Jan Aerts
Pagina's: 1 - 12 - Annotate-it : a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease(2012)
Auteurs: Alejandro Sifrim, Jeroen Van Houdt, Léon-Charles Tranchevent, Beata Nowakowska, Ryo Sakai, Georgios Pavlopoulos GA, Koenraad Devriendt, Joris Vermeesch, Yves Moreau, Jan Aerts
Pagina's: 1 - 12 - Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)
Auteurs: Jeroen Van Houdt, Beata Nowakowska, Eve Seuntjens, Alejandro Sifrim, Jean-Pierre Frijns, Danny Huylebroeck, Yves Moreau, Patrick Van Dijck, Annick Vogels, Koenraad Devriendt, et al.
Pagina's: 445 - U261